Frontal bossing, and Hyperglycemia

Diseases related with Frontal bossing and Hyperglycemia

In the following list you will find some of the most common rare diseases related to Frontal bossing and Hyperglycemia that can help you solving undiagnosed cases.

Top matches:

Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME Is also known as polysyndactyly with peculiar skull shape|gcps

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GREIG CEPHALOPOLYSYNDACTYLY SYNDROME

High match SHORT SYNDROME

SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT SYNDROME

High match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Other less relevant matches:

High match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.

2P21 MICRODELETION SYNDROME Is also known as 2p21 deletion syndrome|monosomy 2p21|del(2)(p21)

Related symptoms:

  • Seizures
  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about 2P21 MICRODELETION SYNDROME

Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously.The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (OMIM ) with congenital adrenal hypoplasia (OMIM ) and/or Duchenne muscular dystrophy (DMD ), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996).

GLYCEROL KINASE DEFICIENCY; GKD Is also known as gk deficiency|hyperglycerolemia|gk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCEROL KINASE DEFICIENCY; GKD

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.

HYPOTONIA-CYSTINURIA SYNDROME Is also known as cystinuria with mitochondrial disease|hcs|homozygous 2p16 deletion syndrome, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTONIA-CYSTINURIA SYNDROME

Medium match SOTOS SYNDROME

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

SOTOS SYNDROME Is also known as cerebral gigantism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about SOTOS SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Hyperglycemia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Frontal bossing and Hyperglycemia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Hypoglycemia Hypogonadism Abnormal facial shape Short stature Macrocephaly Cryptorchidism Hydrocephalus Downslanted palpebral fissures Long eyelashes Ventriculomegaly Growth hormone deficiency Severe short stature Strabismus Muscular hypotonia Generalized hypotonia Hernia Abnormal heart morphology Intellectual disability, moderate Low-set, posteriorly rotated ears Congenital hip dislocation Overgrowth Ptosis Delayed puberty Epicanthus Low-set ears Myopia Inguinal hernia Delayed speech and language development Anteverted nares Micrognathia Cognitive impairment Posteriorly rotated ears Nystagmus Delayed skeletal maturation Wide nasal bridge Alopecia Prominent forehead Hip dislocation Small for gestational age Feeding difficulties in infancy Depressed nasal bridge Macrotia Diabetes mellitus Intellectual disability, mild

Rare Symptoms - Less than 30% cases

Acidosis Bilateral sensorineural hearing impairment Short chin Abnormality of dental enamel Tented upper lip vermilion Lipodystrophy Muscle weakness Increased body weight Reduced subcutaneous adipose tissue Ventricular septal defect Decreased body weight Cystinuria Atrial septal defect Hepatomegaly Hyperreflexia Lipoatrophy Apnea Edema Central hypotonia Scoliosis Neoplasm High palate Motor delay Myopathy Neonatal hypoglycemia Absent speech Gynecomastia Osteoporosis Coarse facial features Sparse hair Arthrogryposis multiplex congenita Pyloric stenosis Abnormality of the fingernails Hypergonadotropic hypogonadism Hyperpigmentation of the skin Patent ductus arteriosus Decreased fetal movement Hypocalcemia Hyperkeratosis Micropenis Proptosis Hypothyroidism Nephrolithiasis Lactic acidosis Hypertriglyceridemia Conductive hearing impairment Obesity Abnormal cardiac septum morphology Pectus carinatum Full cheeks Mitral valve prolapse Epidermal acanthosis Abnormality of the skin Nasal speech High forehead Accelerated skeletal maturation Large for gestational age Dolichocephaly Clinodactyly Hypospadias Craniosynostosis Abnormality of the dentition Deeply set eye Joint laxity Brachydactyly Telecanthus Sensorineural hearing impairment Plagiocephaly Hearing impairment Downturned corners of mouth Postural instability Hypotrichosis Camptodactyly Joint hyperflexibility Joint hypermobility Progeroid facial appearance Vesicoureteral reflux Depressed nasal ridge Barrel-shaped chest Genu valgum Large earlobe Tall stature Thick upper lip vermilion Achilles tendon contracture Megalencephaly Large forehead Verrucae Fragile nails Woolly hair Rod-cone dystrophy Central apnea Rhabdomyosarcoma Hematemesis Deep plantar creases Thin nail Large face Papilloma Bronchomalacia Fetal distress Limited elbow movement Abnormality of earlobe Schwannoma Broad femoral neck Hyperextensibility of the finger joints Lack of skin elasticity Pneumothorax Concave nail Hypoplasia of teeth Fasting hypoglycemia Broad philtrum Abnormal mitral valve morphology Asymmetric septal hypertrophy Deep palmar crease Labial hypoplasia Redundant neck skin Microscopic hematuria Abnormality of the testis Thickened nuchal skin fold Abnormality of immune system physiology Aplasia/Hypoplasia of the corpus callosum Infantile muscular hypotonia Redundant skin Advanced eruption of teeth Renal duplication Hyperextensible skin Poor suck Laryngomalacia Relative macrocephaly Arnold-Chiari malformation Hemangioma Abnormal dermatoglyphics Aortic aneurysm Cutis laxa Acanthosis nigricans Neoplasm of the nervous system Narrow palate Pointed chin Hoarse voice Abnormality of the hair Cafe-au-lait spot Hydrops fetalis Lymphedema Failure to thrive in infancy Multiple renal cysts Severe postnatal growth retardation Generalized hyperpigmentation Obstructive sleep apnea Soft skin Genu varum Precocious puberty Arnold-Chiari type I malformation Syringomyelia Triangular mouth Tracheomalacia Abnormality of the ureter Ulnar deviation of finger Pleural effusion Rhabdomyolysis Neuroblastoma Curly hair Keratoconus Neurodevelopmental delay Rocker bottom foot Tricuspid regurgitation Hypoplastic toenails Bilateral cryptorchidism Heart murmur Melena Postprandial hyperglycemia Capillary malformation Vomiting Adrenal insufficiency Hyperlipidemia Coma Metabolic acidosis Lethargy Muscular dystrophy Retinal degeneration Distal amyotrophy Thick eyebrow Mitochondrial respiratory chain defects Pathologic fracture Progressive cerebellar ataxia Pigmentary retinopathy Hypoplasia of penis Sparse scalp hair Clumsiness Horizontal nystagmus Hypogonadotrophic hypogonadism Sensory axonal neuropathy Chorioretinal atrophy Retinal atrophy Loss of consciousness Ketoacidosis Recurrent hypoglycemia Peripheral axonal neuropathy Gait ataxia Peripheral neuropathy Pallor Distal muscle weakness Ataxia Increased head circumference Spastic paraplegia Congenital muscular torticollis Facial hypotonia Paraplegia Torticollis Adrenal hypoplasia Chronic diarrhea Open mouth Narrow forehead Poor speech Diarrhea Hyperglycerolemia Increased urinary glycerol Adrenocortical hypoplasia Congenital adrenal hypoplasia Episodic vomiting Progressive gait ataxia Titubation Bladder neoplasm Mandibular prognathia Choroid plexus papilloma Neonatal sepsis Severe failure to thrive Multifocal atrial tachycardia Embryonal rhabdomyosarcoma Deep-set nails Vestibular Schwannoma Frontal hirsutism Behavioral abnormality Ganglioneuroblastoma Bladder carcinoma EEG abnormality Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Hypopnea Shyness Cerebellar atrophy Body odor Ulnar deviation of the wrist Duodenal ulcer Abnormal pulmonary valve morphology Polyphagia Abnormality of mitochondrial metabolism Alopecia areata Thickened Achilles tendon Choroideremia Long eyebrows Central heterochromia Fatigue Intellectual disability, severe Increased corneal curvature Areflexia Retrognathia Systolic heart murmur Neonatal hypotonia Facial palsy Cardiomyocyte hypertrophy Congenital neuroblastoma Lymphangiectasis Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Severe muscular hypotonia Macrocephaly at birth Loose anagen hair Wide anterior fontanel Talipes equinovarus Hypoplasia of dental enamel Congenital glaucoma Dimple chin Abnormal pupil morphology Premature skin wrinkling Increased intraocular pressure Hypoplasia of the iris Posterior embryotoxon Insulin-resistant diabetes mellitus Megalocornea Poor appetite Abnormality of the immune system Glucose intolerance Abnormal anterior chamber morphology Radial deviation of finger Prominent supraorbital ridges Opacification of the corneal stroma Nephrocalcinosis Insulin resistance Abnormality of the face Thin skin Microdontia Underdeveloped nasal alae Dental malocclusion Excessive wrinkled skin Narrow naris Hypodontia Hepatosplenomegaly Recurrent fractures Polyneuropathy Flat face Cleft upper lip Ichthyosis Lymphadenopathy Abnormality of the foot Malabsorption Retinopathy Abnormality of the kidney Pes planus Abnormality of the mandible Dyspnea Pneumonia Splenomegaly Fever Flexion contracture Anemia Abnormality of the zygomatic bone Hypoplastic facial bones Birth length less than 3rd percentile Enlarged epiphyses Rieger anomaly Triangular face Microcornea Decreased testicular size Joint contracture of the hand Cutaneous finger syndactyly Abnormality of digit Partial agenesis of the corpus callosum Delayed cranial suture closure Broad hallux Preaxial hand polydactyly Trigonocephaly Hand polydactyly Preaxial polydactyly Cutaneous syndactyly Broad thumb Foot polydactyly Congenital diaphragmatic hernia Postaxial hand polydactyly Postaxial polydactyly Hirsutism Confusion Toe syndactyly Finger syndactyly Umbilical hernia Polydactyly Agenesis of corpus callosum Syndactyly Scaphocephaly Postaxial foot polydactyly Delayed eruption of teeth Microcephaly Short palm Neurological speech impairment Corneal opacity Weight loss Glaucoma Depressivity Midface retrusion Malar flattening Intrauterine growth retardation Cataract 1-3 toe syndactyly Abnormality of finger Duplication of the distal phalanx of hand 3-4 finger syndactyly Abnormality of calvarial morphology Camptodactyly of toe Abnormality of muscle fibers Metopic synostosis Cutaneous syndactyly of toes Medulloblastoma Preaxial foot polydactyly Broad hallux phalanx High anterior hairline Wide intermamillary distance Amenorrhea Atrial fibrillation Cerebral atrophy Kyphoscoliosis Gastroesophageal reflux Polyhydramnios Respiratory failure Cerebral cortical atrophy Hyperhidrosis Pes cavus Arrhythmia Pectus excavatum Abnormality of cardiovascular system morphology Renal insufficiency Carcinoma Long philtrum Short nose Cardiomyopathy Short neck Respiratory insufficiency Abnormality of the skeletal system Dysphagia Dysarthria Hypertension Feeding difficulties Osteopenia Abnormality of the nervous system Retroperitoneal fibrosis Ascites Thick lower lip vermilion Apraxia Eczema Hip dysplasia Webbed neck Premature birth Nevus Sepsis Macroglossia Tetraplegia Sleep disturbance Hypertrophic cardiomyopathy High, narrow palate Hematuria Thick vermilion border Wide nose Tachycardia Astigmatism Pulmonic stenosis Hypermetropia Wide mouth Postnatal growth retardation Irritability Seborrheic keratosis Upper eyelid edema Cardiomegaly Sleep apnea Episodic fever Polycythemia Scleroderma Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Leukocytosis Stridor Psoriasiform dermatitis Azoospermia Exocrine pancreatic insufficiency Osteolysis Type I diabetes mellitus Elbow flexion contracture Aspiration Gingival overgrowth Telangiectasia Bronchiectasis Primary amenorrhea Hypertrichosis Blue sclerae Epistaxis Severe sensorineural hearing impairment Enlarged kidney Bilateral camptodactyly Broad finger Cervical lymphadenopathy Stiff skin Snoring Episcleritis Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Pancreatic hypoplasia Abnormal eyebrow morphology Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Histiocytosis Skin nodule Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Varicose veins Aspiration pneumonia Sacrococcygeal teratoma


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